Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Export

@article{wang:1998, abstract = {Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.}, address = {Whitehead Institute for Biomedical Research, Nine Cambridge Center, Cambridge, MA 02142, USA.}, author = {Wang, D. G. and Fan, J. B. and Siao, C. J. and Berno, A. and Young, P. and Sapolsky, R. and Ghandour, G. and Perkins, N. and Winchester, E. and Spencer, J. and Kruglyak, L. and Stein, L. and Hsie, L. and Topaloglou, T. and Hubbell, E. and Robinson, E. and Mittmann, M. and Morris, M. S. and Shen, N. and Kilburn, D. and Rioux, J. and Nusbaum, C. and Rozen, S. and Hudson, T. J. and Lipshutz, R. and Chee, M. and Lander, E. S.}, citeulike-article-id = {1001684}, citeulike-linkout-0 = {http://dx.doi.org/10.1126/science.280.5366.1077}, citeulike-linkout-1 = {http://www.sciencemag.org/cgi/content/abstract/280/5366/1077}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/9582121}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=9582121}, day = {15}, doi = {10.1126/science.280.5366.1077}, issn = {0036-8075}, journal = {Science}, month = {May}, number = {5366}, pages = {1077--1082}, posted-at = {2007-09-28 16:17:31}, priority = {2}, title = {Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.}, url = {http://dx.doi.org/10.1126/science.280.5366.1077}, volume = {280}, year = {1998} }

TY - JOUR ID - wang:1998 L3 - citeulike-article-id:1001684 N2 - Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs. IS - 5366 JF - Science SN - 0036-8075 AD - Whitehead Institute for Biomedical Research, Nine Cambridge Center, Cambridge, MA 02142, USA. EP - 1082 TI - Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. VL - 280 SP - 1077 AU - Wang, DG AU - Fan, JB AU - Siao, CJ AU - Berno, A AU - Young, P AU - Sapolsky, R AU - Ghandour, G AU - Perkins, N AU - Winchester, E AU - Spencer, J AU - Kruglyak, L AU - Stein, L AU - Hsie, L AU - Topaloglou, T AU - Hubbell, E AU - Robinson, E AU - Mittmann, M AU - Morris, MS AU - Shen, N AU - Kilburn, D AU - Rioux, J AU - Nusbaum, C AU - Rozen, S AU - Hudson, TJ AU - Lipshutz, R AU - Chee, M AU - Lander, ES PY - 1998/05/15/ UR - http://dx.doi.org/10.1126/science.280.5366.1077 ER -